Ontology Browser

Term:
myofibrillar myopathy (DOID:0080307)
Annotations: Rat: (54) Mouse: (54) Human: (56) Chinchilla: (52) Bonobo: (51) Dog: (54) Squirrel: (52)
Parent Terms Term With Siblings Child Terms
myopathy +     
Actin-Accumulation Myopathy 
Alcohol Myopathy  
Cap Myopathy +   
central core myopathy +   
centronuclear myopathy +   
Centronuclear Myopathy 1  
Centronuclear Myopathy 2  
Centronuclear Myopathy 4  
Centronuclear Myopathy 5  
Centronuclear Myopathy 6, with fiber-type disproportion  
Centronuclear Myopathy, Autosomal Recessive +   
Centronuclear Myopathy, X-Linked  
congenital fiber-type disproportion +   
congenital myopathy +   
congenital structural myopathy +   
Distal Myopathy, Tateyama Type  
Minicore Myopathy with External Ophthalmoplegia  
mitochondrial myopathy +   
Multiple Epiphyseal Dysplasia with Myopathy 
muscular atrophy +   
muscular dystrophy +   
myofascial pain syndrome +   
myofibrillar myopathy +   
A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)
myoglobinuria +   
Myopathy due to Malate-Aspartate Shuttle Defect 
myopathy of extraocular muscle +   
Myopathy with Extrapyramidal Signs  
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
myopathy, lactic acidosis, and sideroblastic anemia +   
Myosclerosis, Autosomal Recessive  
myositis +   
Myostitis 
Myotubular Myopathy with Abnormal Genital Development 
nemaline myopathy +   
Pleoconial Myopathy with Salt Craving 
polymyalgia rheumatica  
reducing body myopathy +   
Secretory Diarrhea, Myopathy, and Deafness 
spheroid body myopathy  
X-linked myopathy with excessive autophagy  

Synonyms
Exact Synonyms: Myofibrillar Myopathies
Primary IDs: MESH:C580316
Alternate IDs: DOID:9007578 ;   RDO:0015910
Xrefs: GARD:10529 ;   OMIM:PS601419
Definition Sources: https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy, https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy, https://www.ncbi.nlm.nih.gov/pubmed/23995273

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.